Whole-Genome CNV Analysis: Advances in Computational Approaches
Accumulating evidence indicates that DNA copy number variation (CNV) is likely to make a significant contribution to human diversity and also play an important role in disease susceptibility. Recent advances in genome sequencing technologies have enabled the characterization of a variety of genomic...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2015-04-01
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| Series: | Frontiers in Genetics |
| Subjects: | |
| Online Access: | http://journal.frontiersin.org/Journal/10.3389/fgene.2015.00138/full |
| _version_ | 1819104946639863808 |
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| author | Mehdi ePirooznia Fernando S Goes Peter P Zandi Peter P Zandi |
| author_facet | Mehdi ePirooznia Fernando S Goes Peter P Zandi Peter P Zandi |
| author_sort | Mehdi ePirooznia |
| collection | DOAJ |
| description | Accumulating evidence indicates that DNA copy number variation (CNV) is likely to make a significant contribution to human diversity and also play an important role in disease susceptibility. Recent advances in genome sequencing technologies have enabled the characterization of a variety of genomic features, including CNVs. This has led to the development of several bioinformatics approaches to detect CNVs from next-generation sequencing (NGS) data. Here, we review recent advances in CNV detection from whole genome sequencing. We discuss the informatics approaches and current computational tools that have been developed as well as their strengths and limitations. This review will assist researchers and analysts in choosing the most suitable tools for CNV analysis as well as provide suggestions for new directions in future development. |
| first_indexed | 2024-12-22T02:14:26Z |
| format | Article |
| id | doaj.art-3442a17b5544454a8bc9238f3f80fdb0 |
| institution | Directory Open Access Journal |
| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-12-22T02:14:26Z |
| publishDate | 2015-04-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj.art-3442a17b5544454a8bc9238f3f80fdb02022-12-21T18:42:19ZengFrontiers Media S.A.Frontiers in Genetics1664-80212015-04-01610.3389/fgene.2015.00138129627Whole-Genome CNV Analysis: Advances in Computational ApproachesMehdi ePirooznia0Fernando S Goes1Peter P Zandi2Peter P Zandi3Johns Hopkins UniversityJohns Hopkins UniversityJohns Hopkins UniversityJohns Hopkins UniversityAccumulating evidence indicates that DNA copy number variation (CNV) is likely to make a significant contribution to human diversity and also play an important role in disease susceptibility. Recent advances in genome sequencing technologies have enabled the characterization of a variety of genomic features, including CNVs. This has led to the development of several bioinformatics approaches to detect CNVs from next-generation sequencing (NGS) data. Here, we review recent advances in CNV detection from whole genome sequencing. We discuss the informatics approaches and current computational tools that have been developed as well as their strengths and limitations. This review will assist researchers and analysts in choosing the most suitable tools for CNV analysis as well as provide suggestions for new directions in future development.http://journal.frontiersin.org/Journal/10.3389/fgene.2015.00138/fullcomputational modelingnext generation sequencingcopy number variationWhole-genome sequencingCNVsstructural variation (SV) |
| spellingShingle | Mehdi ePirooznia Fernando S Goes Peter P Zandi Peter P Zandi Whole-Genome CNV Analysis: Advances in Computational Approaches Frontiers in Genetics computational modeling next generation sequencing copy number variation Whole-genome sequencing CNVs structural variation (SV) |
| title | Whole-Genome CNV Analysis: Advances in Computational Approaches |
| title_full | Whole-Genome CNV Analysis: Advances in Computational Approaches |
| title_fullStr | Whole-Genome CNV Analysis: Advances in Computational Approaches |
| title_full_unstemmed | Whole-Genome CNV Analysis: Advances in Computational Approaches |
| title_short | Whole-Genome CNV Analysis: Advances in Computational Approaches |
| title_sort | whole genome cnv analysis advances in computational approaches |
| topic | computational modeling next generation sequencing copy number variation Whole-genome sequencing CNVs structural variation (SV) |
| url | http://journal.frontiersin.org/Journal/10.3389/fgene.2015.00138/full |
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